Canonical Allele Identifier: CA752238338

Gene: NF2

Linked Data

• dbSNP Id: rs1223702847
• MyVariant Identifiers: chr22:g.30067906_30067908del (hg19) ; chr22:g.29671917_29671919del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.29671923_29671925del , CM000684.2:g.29671923_29671925del	GRCh38
NC_000022.10:g.30067912_30067914del , CM000684.1:g.30067912_30067914del	GRCh37
NC_000022.9:g.28397912_28397914del	NCBI36
NG_009057.1:g.73368_73370del , LRG_511:g.73368_73370del

Transcript Alleles

HGVS	Amino-acid change
ENST00000361166.10:c.962_964del	ENSP00000354529.6:p.Glu321del
ENST00000673312.2:c.*591_*593del	ENSP00000500186.2:n.*591_*593del
ENST00000338641.10:c.1097_1099del MANE Select	ENSP00000344666.5:p.Glu366del
ENST00000361166.9:c.515_517del	ENSP00000354529.5:p.Glu172del
ENST00000672461.1:c.1097_1099del	ENSP00000500919.1:p.Glu366del
ENST00000672805.1:c.*979_*981del	ENSP00000500295.1:n.*979_*981del
ENST00000672896.1:c.1097_1099del	ENSP00000500117.1:p.Glu366del
ENST00000673312.1:c.1116_1118del	ENSP00000500186.1:n.1116_1118del
ENST00000334961.11:c.848_850del	ENSP00000335652.7:p.Glu283del
ENST00000338641.8:c.1097_1099del	ENSP00000344666.4:p.Glu366del
ENST00000353887.8:c.848_850del	ENSP00000340626.4:p.Glu283del
ENST00000361166.8:c.1097_1099del	ENSP00000354529.4:p.Glu366del
ENST00000361452.8:c.974_976del	ENSP00000354897.4:p.Glu325del
ENST00000361676.8:c.971_973del	ENSP00000355183.4:p.Glu324del
ENST00000397789.3:c.1097_1099del	ENSP00000380891.3:p.Glu366del
ENST00000403435.5:c.1010_1012del	ENSP00000384029.1:p.Glu337del
ENST00000403999.7:c.1097_1099del	ENSP00000384797.3:p.Glu366del
ENST00000413209.6:c.448-22829_448-22827del	ENSP00000409921.2:n.448-22829_448-22827de...
ENST00000432151.5:c.523-2913_523-2911del	ENSP00000395885.1:n.523-2913_523-2911del
NM_000268.3:c.1097_1099del , LRG_511t1:c.1097_1099del	NP_000259.1:p.Glu366del
NM_016418.5:c.1097_1099del , LRG_511t2:c.1097_1099del	NP_057502.2:p.Glu366del
NM_181825.2:c.1097_1099del	NP_861546.1:p.Glu366del
NM_181828.2:c.971_973del	NP_861966.1:p.Glu324del
NM_181829.2:c.974_976del	NP_861967.1:p.Glu325del
NM_181830.2:c.848_850del	NP_861968.1:p.Glu283del
NM_181831.2:c.848_850del	NP_861969.1:p.Glu283del
NM_181832.2:c.1097_1099del	NP_861970.1:p.Glu366del
NM_181833.2:c.448-22829_448-22827del	NP_861971.1:n.448-22829_448-22827del
NR_156186.1:n.1656_1658del
XM_017028809.2:c.983_985del	XP_016884298.1:p.Glu328del
XM_017028810.1:c.983_985del	XP_016884299.1:p.Glu328del
NM_000268.4:c.1097_1099del MANE Select	NP_000259.1:p.Glu366del
NM_181825.3:c.1097_1099del	NP_861546.1:p.Glu366del
NM_181828.3:c.971_973del	NP_861966.1:p.Glu324del
NM_181829.3:c.974_976del	NP_861967.1:p.Glu325del
NM_181830.3:c.848_850del	NP_861968.1:p.Glu283del
NM_181831.3:c.848_850del	NP_861969.1:p.Glu283del
NM_181832.3:c.1097_1099del	NP_861970.1:p.Glu366del
NR_156186.2:n.1579_1581del
NM_181833.3:c.448-22829_448-22827del	NP_861971.1:n.448-22829_448-22827del